India’s first National Rare Disease Conference concludes in Mumbai

Mumbai’s Bai Jerbai Wadia Hospital recently hosted India’s reportedly first National Rare Disease Conference, Cure & Care for the Rare, bringing together experts, researchers, and patient advocates to discuss challenges, breakthroughs, and future strategies for rare disease management in the country. The two-day event concluded with discussions on research advancements, policy frameworks, and patient support systems.

Over 500 medical professionals, scientists, and caregivers participated in the conference, engaging in discussions on improving access to care, advancing research, and shaping policies to address rare diseases in India. The inaugural ceremony was attended by Dr B.S. Charan, Assistant Director General, Directorate GHS, Ministry of Health and Family Welfare, Government of India; Prasanna Shirol, Co-Founder and Board Director of the Organisation for Rare Diseases India; Rumana Hamied, Managing Trustee of Cipla Foundation; Dr Minnie Bodhanwala, CEO of Bai Jerbai Wadia Hospital for Children; Dr Sudha Rao, Medical Director; and Dr Pradnya Bendre, Professor and Head of Paediatric Surgery.

Dr B.S. Charan said, “I congratulate Wadia Hospital for organizing this wonderful conference. We have received a request to designate the Wadia Institute as a Centre of Excellence for Rare Diseases. There is a standard protocol and quality criteria for this designation, as diagnosing and treating rare diseases requires specialized expertise.”

Dr Minnie Bodhanwala said, “This year’s theme is Cure & Care for the Rare. Wadia Hospital believes in the three Cs and can add one more C to it. The one more C stands for Compassion & Cure & Care for the Rare. Over the past four years, the hospital has delivered specialized treatment to more than 5,000 children affected by rare diseases. I want to highlight something that we want to do, which is much more, and rare disease comes as a part of that planning. And in that, I want to go in for the paediatric cancer hospital, which will have a lot of bone marrow transplants and other rare diseases coming into it.”

Dr Sudha Rao, Medical Director and Organising Chairperson of the conference, said, “Rare diseases may be uncommon, but the need for action is urgent. This conference was not just about discussing scientific advancements but also about creating a community of care and support. The incredible participation and response have strengthened our resolve to continue working towards a better tomorrow for those living with rare diseases.”

The conference featured multiple sessions on the first day, addressing rare disease management, research, early diagnosis, treatment challenges, and policy frameworks. Experts discussed the need for better healthcare access and solutions for rare disease patients.

During a session titled Rare Disease in Children – Defining and Measuring the Unmet Needs, Dr B.S. Charan said, “The WHO defines rare diseases as conditions that affect fewer than 65 people per 100,000 population size. Worldwide, more than 7,000 types of rare diseases exist, of which 5,500 are identified under ICD-11. Fifty to seventy-five percent are paediatric onset, and 80 percent are due to genetic etiology. Other than genetics, rare infections (bacterial or viral), rare allergic reactions, and rare cancers are also included. Thirty percent of children with rare diseases die before reaching their fifth birthday because of the lack of treatment. Treatment is only available for five percent of rare diseases. Early diagnosis and treatment can significantly reduce morbidity and mortality.”

He further highlighted the challenges in rare disease diagnosis, stating, “On average, a patient with a rare disease has to visit more than seven physicians and spend 4.8 years receiving an accurate diagnosis. Forty percent of the patients are misdiagnosed on at least one occasion. There are diagnostic delays due to a lack of infrastructure and diagnostic facilities, especially in low- and middle-income countries. Treatment is available for less than five percent of identified rare diseases. Where a treatment is approved, the cost of the drug is generally extremely costly, with rare disease drugs reported to be as high as 13.8 times more than conventional drugs. Lack of supportive care is a challenge if definitive treatment is not available. There is also a detrimental influence on the health, psychosocial, and economic aspects of the lives of rare disease families. The National Policy for Rare Disease (NPRD) 2021 aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy. The key components include rare diseases categorized under three groups—Group 1, 2, and 3—Centres of Excellence, Government of India’s support in treatment, voluntary crowdfunding, prevention and control, and capacity building.”

A session titled Hum Saath Saath Hain – Navigating Through the Journey was held in collaboration with the Organisation for Rare Diseases India (ORDI) as a dedicated support session for children and patients. Participants shared their experiences, highlighting the challenges and emotional impact of living with rare diseases.

The second day of the conference featured discussions on Care for the Rare – Working Together for a Sustainable Future, Rare Anaemia, Therapy for Spinal Muscular Atrophy (SMA), Immunodeficiency and Bone Marrow Transplant, and Genetic Counselling – A Bridge and Bonding with Rare Disease Families.

The National Rare Disease Conference has set the stage for further discussions on addressing the needs of paediatric patients and their families. Wadia Hospital aims to continue its efforts in advancing research and care for children affected by rare diseases.